Projects. Life and Matter Sciences

Alternative therapies for inherited metabolic diseases

Lead Researcher:
Alejandra Gámez Abascal

Research Centre:
Centro de Biología Molecular. CSIC-UAM. (Spain).

Synopsis:
The objective of this project is to investigate and develop alternative therapies for inherited metabolic diseases whose treatment, if any, is not completely satisfactory at a clinical and/or psychosocial level and whose prognosis in most cases is fatal. To this end enzyme replacement or substitution therapy will be explored for the treatment of diseases such as maple syrup urine disease or homocystinuria. Additionally investigation will be conducted into the therapeutic potential of emerging molecular chaperone therapy for genetic diseases in which the predominant disease-causing mutations affect protein stability and/or folding but retain a considerable degree of residual activity, as in the case of congenital disorders of glycosylation (CDG).

SCIENTIFIC PRODUCTION

3 articles published in Journals
1 paper at international conferences

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Alejandra Gámez Abascal
Ph.D. in Chemistry, specialising in Biochemistry and Molecular Biology from the Autonomous University of Madrid in April 2001 with "Distinction Cum Laude". Doctoral thesis completed at the laboratory of Prof. Magdalena Ugarte. Postdoctoral sojourn at The Scripps Research Institute (USA) from 2001 to 2007 in the laboratory of Prof. Raymond Stevens. Collaboration during this period with the BioMarin Pharmaceutical Inc. company for the development of enzyme therapy for the treatment of Phenylketonuria that is currently in the final phase of human clinical trials. Participation in 20 international and 2 national scientific conferences. Publication of 20 articles in scientific journals of international prestige. Co-inventor of 3 patents related to technology for modification of proteins used as enzyme therapy. Since November 2009, she has been the Ramón y Cajal researcher at the Severo Ochoa Centre for Molecular Biology focusing on the development of alternative therapies for the treatment of various metabolic diseases.